Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000949194 | SCV001095440 | likely benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279655 | SCV002567161 | likely benign | Connective tissue disorder | 2021-06-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003106084 | SCV003761664 | uncertain significance | not provided | 2022-07-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV003106084 | SCV003823699 | uncertain significance | not provided | 2022-06-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543559 | SCV004783991 | likely benign | WDR19-related disorder | 2022-04-06 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |